An Australian led global initiative to improve the diagnosis of genetic disorders and reduce errors in the reporting of genetic variations will be published in the prestigious scientific journal Science on Friday 7 November (AUS).

“There is a staggering close to 40 percent error rate in some reporting of genetic variations,” says Professor Richard Cotton, lead author of the paper, Convenor of the Human Variome Project and honorary researcher at the University of Melbourne.

“This means clinicians and specialists cannot solely rely on the research literature to inform the life and death decisions of diagnosis and prognosis of genetic disorders.”

Over 60 percent of people worldwide will be affected by a genetic change at some point in their lives that can result in a range of diseases such as cystic fibrosis, epilepsy and cancer.